R40* (p.Arg40Ter) variant of GAA (Lysosomal alpha-glucosidase)
R40* (p.Arg40Ter) in GAA (Lysosomal alpha-glucosidase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R40* (p.Arg40Ter) variant details
- p.Arg40Ter
- rs767409395
- ClinGen CA8814791
- ClinVar RCV000489843
- ClinVar RCV000589039
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)